Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study

Genetic Polymorphism of <i>CYP2R1</i>, <i>CYP27A1</i>, <i>CYP27B1</i>, and Vitamin D Metabolites Plasma Levels in Patients with Cardiovascular Disease: A Pilot Study

The active form of vitamin D, calcitriol (1,25(OH)<sub>2</sub>D<sub>3</sub>), is produced from 25(OH)D<sub>3</sub> via enzymes encoded by <i>CYP2R1</i>, <i>CYP27A1</i>, and <i>CYP27B1</i>. Polymorphisms in these genes may alter...

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Main Authors: Mohamed Abouzid, Łukasz Kruszyna, Dominika Kaczmarek, Leonid Kagan, Aniceta Ada Mikulska-Sauermann, Dorota Filipowicz, Matylda Resztak, Franciszek K. Główka, Marta Karaźniewicz-Łada
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:Biomolecules
Subjects:
<i>CYP2R1</i>
<i>CYP27A1</i>
<i>CYP27B1</i>
calcitriol
calcidiol
cardiovascular disease
Online Access:https://www.mdpi.com/2218-273X/15/5/699
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Summary:The active form of vitamin D, calcitriol (1,25(OH)<sub>2</sub>D<sub>3</sub>), is produced from 25(OH)D<sub>3</sub> via enzymes encoded by <i>CYP2R1</i>, <i>CYP27A1</i>, and <i>CYP27B1</i>. Polymorphisms in these genes may alter vitamin D metabolism and increase cardiovascular disease risk. This preliminary study investigated these polymorphisms in 27 patients with cardiovascular disease and 26 healthy volunteers using Polymerase Chain Reaction—Restriction Fragment Length Polymorphism (PCR-RFLP), while measuring 25(OH)D<sub>3</sub> and 1,25(OH)<sub>2</sub>D<sub>3</sub> concentrations by UPLC-MS/MS and ELISA, respectively. Among patients, those with the GT genotype of <i>rs10877012</i> (<i>CYP27B1</i>) had higher 25(OH)D<sub>3</sub> levels compared to other genotypes. Additionally, this polymorphism was associated with lower 1,25(OH)<sub>2</sub>D<sub>3</sub> in TT homozygotes, suggesting reduced <i>CYP27B1</i> activity. Furthermore, the TT genotype of <i>rs6709815</i> (<i>CYP27A1</i>) was three times more prevalent in cardiac patients than in healthy controls, possibly indicating increased susceptibility to the disease. Although these findings suggest a genetic influence on vitamin D metabolism in cardiovascular disease, larger and more comprehensive studies are needed to confirm these associations.
ISSN:2218-273X

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